Cambridge’s new genetic test will eliminate inherited blindness in dogs

The team began the research after being contacted by a distraught owner of an English Shepherd Dog that had been recently diagnosed with progressive retinal atrophy (PRA).

Cambridge’s new genetic test will eliminate inherited blindness in dogs

The new DNA test means there is no reason why another English Shepherd Dog ever needs to be born with progressive retinal atrophy, which causes total blindness.

Cambridge University

The University of Cambridge’s department of Veterinary Medicine finalized a genetic test that will prevent English Shepherd Dogs from going blind.

“After getting a call from a distressed owner that his English Shepherd Dog had been diagnosed with progressive retinal atrophy (PRA) and went blind, the Cambridge team got to work. They specialize in inherited diseases in dogs,” Katherine Stanbury, first author of the report just published in Genes, told Interesting Engineering.

“Now we have a DNA test. There’s no reason why another English Shepherd Dog ever needs to be born with this form of progressive retinal atrophy – it gives breeders a way of totally eliminating the disease,” she stated in a press release.

The making of the canine genetic test

The study sought to identify the variant associated with PRA in English Shepherd Dogs (ESD). First, they asked owners and breeders to supply them DNA samples. They ended up with six that carried PRA and twenty that didn’t, as per the press release. Using whole genome sequencing they were able to locate the genetic mutation causing the dysfunction.

“We sequenced the genomes of two PRA cases using short read sequencing with Illumina sequencers. This produces paired-end sequence data of 150bp which we can align to a reference genome, in this case is the canine reference Canfam4. This then allows us to analyze variants within the genome that are specific to the cases,” Stanbury told IE.

The genetic mutation identified is recessive. A dog must inherit two copies of it in order to develop the condition. However, they can still pass it onto the next generation, as they carry the gene. If two carriers are bred together, then, 1 out of 4 dogs will end up going blind.

Breeding practices are the cause and there is no cure for the disease, the new test will help breeders to stop the disease entirely. “Once the dog’s eyesight starts to fail there’s no treatment – it will end up totally blind,” Stanbury said. “It is doubtful that a cure will be developed for the dog, although not out of the question,” she clarified to IE.

DNA test for blindness. The University of Cambridge

The study will help humans suffering from genetic blindness, too

At the University of Cambridge, Stanbury works on inherited eye diseases in dogs that are mostly due to breeding practices as inbreeding is common. Thus far, they’ve identified 33 genetic canine mutations, 23 of which affect their eyes.

The disease develops a few years into their lives, so they don’t show signs as puppies, so prevention is the best strategy as no cure exists once adult dogs start going blind. So at £48, the test allows all breeders to easily take a swab from inside the mouth and send it for further testing.

“For the price of a decent bag of dog food people can now have their English Shepherd tested for Progressive Retinal Atrophy prior to breeding. It’s about prevention, rather than a cure, and it means a huge amount to the people who breed these dogs. They no longer need to worry about whether the puppies are going to be healthy or are going to develop this horrible disease in a few years’ time,” Stanbury stated in the press release.

The field of gene therapy in inherited eye disease, Stanbury concluded with IE, is making progress. In that, this study stands to help medicine understand a similar eye disease that presents itself in humans known as retinitis pigmentosa, caused by mutations to the RPF65 gene.

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As work is already underway on genetic eye diseases in humans, Stanbury believes that their work aids human research “by illustrating the importance of a longer form of the protein that contains exon 4,” which is a hyper-specific observation about the nature of the mutation. And it could advance gene therapy. Humans with RP and Tibetan Terriers and Spaniels with PRA demonstrate the same mutation.

The study, just published in Genes, will help both man and dog alike.

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ABOUT THE EDITOR

Maria Mocerino Originally from LA, Maria Mocerino has been published in Business Insider, The Irish Examiner, The Rogue Mag, Chacruna Institute for Psychedelic Plant Medicines, and now Interesting Engineering.

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